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Judith Armstrong

Showing results (71-80 of 86) with videos related to

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Orphanet Journal of Rare Diseases|October 7, 2024
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Science Signaling|June 20, 2019
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function <i>GRIN2B</i>-related pediatric encephalopathyDavid Soto, Mireia Olivella, Cristina Grau, et al.
Human Genetics|March 7, 2024
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomaliesDaniel Brooks, Elizabeth Burke, Sukyeong Lee, et al.
Neuromuscular Disorders : NMD|June 17, 2011
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathyMontse Olivé, Zagaa Odgerel, Amaia Martínez, et al.
Human Mutation|March 15, 2012
Rett networked database: an integrated clinical and genetic network of Rett syndrome databasesElisa Grillo, Laurent Villard, Angus Clarke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2015
Mutations in JMJD1C are involved in Rett syndrome and intellectual disabilityMauricio A Sáez, Juana Fernández-Rodríguez, Catia Moutinho, et al.
Epilepsia|March 20, 2015
Epilepsy in Rett syndrome--lessons from the Rett networked databaseAndreea Nissenkorn, Rachel S Levy-Drummer, Ori Bondi, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher DiseaseMarcio Andrade-Campos, Pilar Alfonso, Pilar Irun, et al.
Journal of Clinical Medicine|January 13, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial DiseaseCristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, et al.
Clinical Genetics|December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.
Pageof 9

Showing results (71-80 of 86) with videos related to

Sort By:
Pageof 9
Orphanet Journal of Rare Diseases|October 7, 2024
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Science Signaling|June 20, 2019
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function <i>GRIN2B</i>-related pediatric encephalopathyDavid Soto, Mireia Olivella, Cristina Grau, et al.
Human Genetics|March 7, 2024
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomaliesDaniel Brooks, Elizabeth Burke, Sukyeong Lee, et al.
Neuromuscular Disorders : NMD|June 17, 2011
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathyMontse Olivé, Zagaa Odgerel, Amaia Martínez, et al.
Human Mutation|March 15, 2012
Rett networked database: an integrated clinical and genetic network of Rett syndrome databasesElisa Grillo, Laurent Villard, Angus Clarke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2015
Mutations in JMJD1C are involved in Rett syndrome and intellectual disabilityMauricio A Sáez, Juana Fernández-Rodríguez, Catia Moutinho, et al.
Epilepsia|March 20, 2015
Epilepsy in Rett syndrome--lessons from the Rett networked databaseAndreea Nissenkorn, Rachel S Levy-Drummer, Ori Bondi, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher DiseaseMarcio Andrade-Campos, Pilar Alfonso, Pilar Irun, et al.
Journal of Clinical Medicine|January 13, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial DiseaseCristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, et al.
Clinical Genetics|December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.
Pageof 9